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Aliases for GNAL Gene

Aliases for GNAL Gene

  • G Protein Subunit Alpha L 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Activating Activity Polypeptide, Olfactory Type 2 3
  • Adenylate Cyclase-Stimulating G Alpha Protein, Olfactory Type 3 4
  • Guanine Nucleotide-Binding Protein G(Olf) Subunit Alpha 3 4
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide, Olfactory Type 3
  • DYT25 3

External Ids for GNAL Gene

Previous GeneCards Identifiers for GNAL Gene

  • GC18P011973
  • GC18P011808
  • GC18P011679
  • GC18P011862
  • GC18P011925
  • GC18P012014
  • GC18P011755
  • GC18P012079
  • GC18P012753
  • GC18P012162
  • GC18P012232
  • GC18P012310
  • GC18P012378
  • GC18P012473
  • GC18P012545
  • GC18P012611
  • GC18P012689

Summaries for GNAL Gene

Entrez Gene Summary for GNAL Gene

  • This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for GNAL Gene

GNAL (G Protein Subunit Alpha L) is a Protein Coding gene. Diseases associated with GNAL include Dystonia 25 and Cervical Dystonia. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Dopamine-DARPP32 Feedback onto cAMP Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAS.

UniProtKB/Swiss-Prot for GNAL Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Tocris Summary for GNAL Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAL Gene

Additional gene information for GNAL Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAL Gene

Genomics for GNAL Gene

GeneHancer (GH) Regulatory Elements for GNAL Gene

Promoters and enhancers for GNAL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J011688 Promoter/Enhancer 1.5 Ensembl ENCODE 635.5 +0.6 577 2 ZNF121 ZNF687 ZSCAN21 ZBTB7A SP7 ZNF174 ZNF548 KLF14 ZNF404 MZF1 GNAL PRELID3A PSMG2 ENSG00000267199 ENSG00000267249 ENSG00000267515 GC18P012924 PIRC96
GH18J011750 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 606.7 +63.0 62986 2 EZH2 POLR2A GNAL CHMP1B MPPE1 IMPA2 GC18P012920 ASNSP6
GH18J011854 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +169.2 169183 6.9 SP1 ELF3 CEBPG GTF2F1 ZNF384 BACH1 MAFK TFE3 TRIM24 ELF1 ENSG00000272703 CHMP1B GNAL ENSG00000267249 ENSG00000267199 PIR45381
GH18J011692 Enhancer 0.4 Ensembl 35.3 +4.6 4586 2.8 MAFK ZNF548 ZNF316 GC18P012871 GC18P012888 GC18P012924 PIR61161 PIR45477 PIR56843 GC18P012917 GC18P012910 GNAL PSMG2
GH18J011849 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +162.7 162709 5.1 ZNF652 CC2D1A SP1 ZFX ELF3 MNT SIX5 NKRF POLR2A MLLT1 CHMP1B CHMP1B-AS1 TUBB6 MPPE1 ENSG00000267069 PSMG2 GNAL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNAL gene promoter:
  • AML1a
  • C/EBPbeta
  • CP2
  • CUTL1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a

Genomic Locations for GNAL Gene

Genomic Locations for GNAL Gene
chr18:11,689,015-11,885,685
(GRCh38/hg38)
Size:
196,671 bases
Orientation:
Plus strand
chr18:11,688,955-11,885,684
(GRCh37/hg19)
Size:
196,730 bases
Orientation:
Plus strand

Genomic View for GNAL Gene

Genes around GNAL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAL Gene

Proteins for GNAL Gene

  • Protein details for GNAL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38405-GNAL_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(olf) subunit alpha
    Protein Accession:
    P38405
    Secondary Accessions:
    • B7ZA26
    • Q86XU3

    Protein attributes for GNAL Gene

    Size:
    381 amino acids
    Molecular mass:
    44308 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Alternative splice isoforms for GNAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNAL Gene

Post-translational modifications for GNAL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GNAL Gene

Domains & Families for GNAL Gene

Gene Families for GNAL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GNAL Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94539, Homo sapiens guanine nucleotide binding protein (G protein), alphaactivating activity polypeptide, olfactory type (GNAL), transcriptvariant 2, mRNA (A8K1Y9_HUMAN)
  • cDNA, FLJ79040, highly similar to Guanine nucleotide-binding protein G(olf) subunit alpha (B7ZA26_HUMAN)
  • Adenylate cyclase-stimulating G alpha protein, olfactory type (GNAL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38405

UniProtKB/Swiss-Prot:

GNAL_HUMAN :
  • Belongs to the G-alpha family. G(s) subfamily.
Family:
  • Belongs to the G-alpha family. G(s) subfamily.
genes like me logo Genes that share domains with GNAL: view

Function for GNAL Gene

Molecular function for GNAL Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein) alpha stimulating activity,olfactory type

Phenotypes From GWAS Catalog for GNAL Gene

Gene Ontology (GO) - Molecular Function for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0003924 GTPase activity IBA,TAS 21873635
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding IEA --
GO:0031683 G-protein beta/gamma-subunit complex binding IBA 21873635
genes like me logo Genes that share ontologies with GNAL: view
genes like me logo Genes that share phenotypes with GNAL: view

Human Phenotype Ontology for GNAL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAL Gene

MGI Knock Outs for GNAL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAL

Clone Products

  • Applied Biological Materials (abm): Clones for GNAL - Now 50% OFF >
  • * GNAL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GNAL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAL Gene

Localization for GNAL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAL gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GNAL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNAL Gene

Pathways & Interactions for GNAL Gene

genes like me logo Genes that share pathways with GNAL: view

Gene Ontology (GO) - Biological Process for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8243272
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA 21873635
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS --
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GNAL: view

No data available for SIGNOR curated interactions for GNAL Gene

Drugs & Compounds for GNAL Gene

(4) Drugs for GNAL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAL Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAL Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAL: view

Transcripts for GNAL Gene

Unigene Clusters for GNAL Gene

Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAL

Clone Products

  • Applied Biological Materials (abm): Clones for GNAL - Now 50% OFF >
  • * GNAL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GNAL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GNAL Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b
SP1: - - - - - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for GNAL Gene

GeneLoc Exon Structure for
GNAL
ECgene alternative splicing isoforms for
GNAL

Expression for GNAL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNAL Gene

mRNA differential expression in normal tissues according to GTEx for GNAL Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.2) and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for GNAL Gene

This gene is overexpressed in Breast (18.5), Brain (14.2), Cervix (12.4), Lung (8.0), and Heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GNAL Gene



Protein tissue co-expression partners for GNAL Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAL Gene:

GNAL

SOURCE GeneReport for Unigene cluster for GNAL Gene:

Hs.136295

mRNA Expression by UniProt/SwissProt for GNAL Gene:

P38405-GNAL_HUMAN
Tissue specificity: Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.

Evidence on tissue expression from TISSUES for GNAL Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • epiglottis
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • trachea
Limb:
  • lower limb
  • upper limb
genes like me logo Genes that share expression patterns with GNAL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GNAL Gene

Orthologs for GNAL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAL 35 34
  • 99.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNAL 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAL 35 34
  • 90.44 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAL 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAL 35 34
  • 88.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnal 34
  • 88.06 (n)
mouse
(Mus musculus)
Mammalia Gnal 17 35 34
  • 87.88 (n)
chicken
(Gallus gallus)
Aves GNAL 35 34
  • 85.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gnal 34
  • 80.56 (n)
zebrafish
(Danio rerio)
Actinopterygii gnal2 35
  • 76 (a)
OneToOne
gnal 34
  • 75.99 (n)
wufb10c03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12792 34
fruit fly
(Drosophila melanogaster)
Insecta G-salpha60A 35 36
  • 68 (a)
OneToMany
Galpha73B 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea gsa-1 35 36
  • 64 (a)
OneToMany
gpa-5 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA1 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for GNAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAL Gene

ENSEMBL:
Gene Tree for GNAL (if available)
TreeFam:
Gene Tree for GNAL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNAL: view image

Paralogs for GNAL Gene

(17) SIMAP similar genes for GNAL Gene using alignment to 5 proteins:

  • GNAL_HUMAN
  • A8K1Y9_HUMAN
  • K7EMY6_HUMAN
  • K7EPE2_HUMAN
  • K7EQ80_HUMAN
genes like me logo Genes that share paralogs with GNAL: view

Variants for GNAL Gene

Sequence variations from dbSNP and Humsavar for GNAL Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1060504720 benign, Dystonia 11,752,546(+) CTTACA/ coding_sequence_variant, genic_upstream_transcript_variant, inframe_indel, intron_variant
rs142792291 uncertain-significance, Dystonia 11,881,007(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs145400180 benign, Dystonia 11,752,565(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant
rs181443061 benign, Dystonia 11,689,824(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs182262644 likely-benign, Dystonia 11,753,861(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GNAL Gene

Variant ID Type Subtype PubMed ID
dgv1552n106 CNV deletion 24896259
dgv450e201 CNV deletion 23290073
esv1495837 CNV insertion 17803354
esv2115144 CNV deletion 18987734
esv2432184 CNV insertion 19546169
esv2668690 CNV deletion 23128226
esv2672629 CNV deletion 23128226
esv2676694 CNV deletion 23128226
esv2716801 CNV deletion 23290073
esv2716803 CNV deletion 23290073
esv2716804 CNV deletion 23290073
esv2716805 CNV deletion 23290073
esv27176 CNV loss 19812545
esv3394798 CNV duplication 20981092
esv3403150 CNV duplication 20981092
esv3582974 CNV loss 25503493
esv3641810 CNV loss 21293372
esv3641812 CNV loss 21293372
esv3641813 CNV loss 21293372
esv3641815 CNV gain 21293372
esv3641816 CNV loss 21293372
esv3641817 CNV loss 21293372
esv3641818 CNV loss 21293372
esv4523 CNV loss 18987735
esv6550 CNV gain 19470904
nsv1057995 CNV gain 25217958
nsv1065382 CNV gain 25217958
nsv1071429 CNV deletion 25765185
nsv1078419 CNV duplication 25765185
nsv1111154 CNV tandem duplication 24896259
nsv1113905 CNV deletion 24896259
nsv1116253 CNV deletion 24896259
nsv1129331 OTHER inversion 24896259
nsv1151090 CNV deletion 26484159
nsv1153637 OTHER inversion 26484159
nsv131836 CNV deletion 16902084
nsv516128 CNV loss 19592680
nsv518207 CNV loss 19592680
nsv525904 CNV loss 19592680
nsv828180 CNV loss 20364138
nsv833590 CNV gain 17160897
nsv955445 CNV deletion 24416366

Variation tolerance for GNAL Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNAL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAL
Human Gene Mutation Database (HGMD)
GNAL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAL Gene

Disorders for GNAL Gene

MalaCards: The human disease database

(12) MalaCards diseases for GNAL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 25
  • dyt25
cervical dystonia
  • spasmodic torticollis
dystonia
  • dystonic disease
focal dystonia
  • dystonia, focal, task-specific
spasmodic dystonia
  • laryngeal dystonia
- elite association - COSMIC cancer census association via MalaCards
Search GNAL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAL_HUMAN
  • Dystonia 25 (DYT25) [MIM:615073]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. {ECO:0000269 PubMed:23222958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GNAL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNAL: view

No data available for Genatlas for GNAL Gene

Publications for GNAL Gene

  1. Mutations in GNAL cause primary torsion dystonia. (PMID: 23222958) Fuchs T … Ozelius LJ (Nature genetics 2013) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 58
  3. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PMID: 19328558) Yosifova A … Nakamura Y (Journal of affective disorders 2009) 3 45 58
  4. Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder. (PMID: 17166517) Laurin N … Barr CL (Journal of psychiatric research 2008) 3 23 58
  5. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. (PMID: 16044173) Corradi JP … Furlong ST (Molecular psychiatry 2005) 3 23 58

Products for GNAL Gene

Sources for GNAL Gene

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